Canonical Allele Identifier: CA359207320

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13717413-C-T
• MyVariant Identifiers: chr5:g.13717522C>T (hg19) ; chr5:g.13717413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717413C>T , CM000667.2:g.13717413C>T	GRCh38
NC_000005.9:g.13717522C>T , CM000667.1:g.13717522C>T	GRCh37
NC_000005.8:g.13770522C>T	NCBI36
NG_013081.1:g.232068G>A
NG_013081.2:g.232068G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12607G>A MANE Select	ENSP00000265104.4:p.Ala4203Thr
ENST00000681290.1:c.12562G>A	ENSP00000505288.1:p.Ala4188Thr
ENST00000265104.4:c.12607G>A	ENSP00000265104.4:p.Ala4203Thr
NM_001369.2:c.12607G>A	NP_001360.1:p.Ala4203Thr
XM_005248262.2:c.12562G>A	XP_005248319.1:p.Ala4188Thr
XM_005248262.3:c.12715G>A	XP_005248319.2:p.Ala4239Thr
XM_017009177.1:c.12715G>A	XP_016864666.1:p.Ala4239Thr
XM_017009178.1:c.11620G>A	XP_016864667.1:p.Ala3874Thr
XM_017009179.2:c.11620G>A	XP_016864668.1:p.Ala3874Thr
XM_017009180.1:c.12715G>A	XP_016864669.1:p.Ala4239Thr
XM_017009185.1:c.7804G>A	XP_016864674.1:p.Ala2602Thr
XM_017009186.1:c.7357G>A	XP_016864675.1:p.Ala2453Thr
XM_017009188.1:c.6694G>A	XP_016864677.1:p.Ala2232Thr
XM_024454388.1:c.11620G>A	XP_024310156.1:p.Ala3874Thr
XM_024454389.1:c.11209G>A	XP_024310157.1:p.Ala3737Thr
NM_001369.3:c.12607G>A MANE Select	NP_001360.1:p.Ala4203Thr